Retinoblastoma and Neuroblastoma predisposition and surveillance

Junne Kamihara, Franck Bourdeaut, William D. Foulkes, Jan J. Molenaar, Yael P. Mosse, Akira Nakagawara, Andreu Parareda, Sarah R. Scollon, Kami Wolfe Schneider, Alison H. Skalet, Lisa J. States, Michael F. Walsh, Lisa R. Diller, Garrett M. Brodeur

Research output: Contribution to journalArticlepeer-review

145 Scopus citations


Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuro-imaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors. However, there is not yet a clear consensus on what, if any, screening protocol would be most appropriate and effective. Neuroblastoma (NB), an embryonal tumor of the sympathetic nervous system, accounts for 15% of pediatric cancer deaths. Prior studies suggest that about 2% of patients with NB have an underlying genetic predisposition that may have contributed to the development of NB. Germline mutations in ALK and PHOX2B account for most familial NB cases. However, other cancer predisposition syndromes, such as Li-Fraumeni syndrome, RASopathies, and others, may be associated with an increased risk for NB. No established protocols for NB surveillance currently exist. Here, we describe consensus recommendations on hereditary RB and NB from the AACR Childhood Cancer Predisposition Workshop.

Original languageEnglish (US)
Pages (from-to)e98-e106
JournalClinical Cancer Research
Issue number13
StatePublished - Jul 1 2017

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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